ClinicalTrials.gov record NCT07787650
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
A Phase 1b, Multicenter, Single-arm, Open-label Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of S-606001 as a Monotherapy in Adult Patients With Late-onset Pompe Disease
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This Phase 1b, single-arm, open-label study gives oral S-606001 alone to adults with late‑onset Pompe disease (LOPD). The primary aim is to evaluate safety and tolerability over about 48–49 weeks while collecting drug blood levels and exploratory measures of breathing, walking, and daily activities. Participants receive S-606001 tablets and undergo assessments such as lung-function tests and a 6-minute walk test.
What it is studying. The study is testing oral S-606001 as a single-agent treatment in people with LOPD. It will assess safety and tolerability, measure how the body handles the drug (plasma concentrations), and explore effects on respiratory function, walking ability, muscle-related tasks (GSGC), and daily activities as assessed by the investigator.
What the researchers hope to learn. To evaluate the safety and tolerability of S-606001 in people with LOPD; to characterize pharmacokinetics (plasma drug levels) and pharmacodynamics; and to explore effects on respiratory function, walking ability, muscle-related tasks, and daily activities.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Drug
- S-606001
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Participant must be ≥40 kilograms of body weight at the time of signing the informed consent form
- Participant must have a diagnosis of LOPD based on documentation of the following: deficiency of acid alpha-glucosidase (GAA) enzyme; GAA genotype
- Participant has a %FVC ≥30% and ≤80% in an upright position without mechanical ventilation at screening or participant has >80% FVC in upright position and ≥10% %FVC drop from upright position to supine position and %FVC ≥20% in a supine position
- Participant performs the 6MWT at screening, as determined by the clinical evaluator, and meets all of the following criteria: screening values of 6-minute walk distance (6MWD) are ≥75 meters; screening values of 6MWD are ≤90% of the predicted value for healthy adults
- Participant must not have received enzyme replacement therapy (ERT) for at least 3 months prior to providing informed consent and enrollment and agrees not receive any type of ERT while participating in the study
- Key
Exclusion criteria
- Has a medical condition or any other extenuating circumstance that may, in the opinion of the investigator or medical monitor, pose an undue safety risk to the participant or may compromise his/her ability to comply with or adversely impact protocol requirements
- Has active infections at screening
- Malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years
- Current or chronic history of liver disease
- Known biallelic loss of function mutations whether in the muscle glycogen synthase gene or in the glycogen phosphorylase muscle associated gene
- Has received any investigational therapy or pharmacological treatment for Pompe disease, within 30 days or 5 half-lives of the therapy or treatment, whichever is longer, before day 1 or is anticipated to do so during the study
- Has received gene therapy for Pompe disease within 2 years of screening or small interfering RNA therapy for Pompe disease within 6 months of screening
- Participant, if female, is pregnant or breastfeeding at screening
- Participant, whether male or female, is planning to conceive a child during the study
- Note: Other protocol-specified inclusion and exclusion criteria may apply.
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants will take S-606001 as an oral tablet. They will attend screening and regular clinic visits that include breathing tests (percent forced vital capacity, maximum expiratory and minimum inspiratory pressures), a 6-minute walk test, and functional assessments such as the Gait/Stair/Gower's/Chair (GSGC) score and investigator-rated daily living activity levels. Blood samples will be collected to measure plasma concentrations of S-606001 and its metabolites (up to Week 28), and study staff will record treatment-emergent adverse events from baseline through Week 49. These tests and assessments are performed at baseline and repeated at follow-up visits through Week 48–49 to track changes from baseline.
How the study is structured. Interventional Phase 1b, single-group, open-label study in which all participants receive oral S-606001 tablets. Safety (treatment-emergent adverse events) is tracked from baseline through Week 49. Drug plasma concentrations are measured up to Week 28. Key clinical measures—percent forced vital capacity (%FVC), maximum expiratory pressure (MEP), maximum inspiratory pressure (MIP), the 6-minute walk test (6MWT), GSGC score, and investigator-assessed daily activities—are recorded at baseline and Week 48.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
- The registry says recruitment has not started. When is it expected to open, and can I register interest now?
- No sites are listed on the registry yet. Where will the study take place?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- Sep 30, 2026 (estimated)
- Primary completion
- Oct 31, 2028 (estimated)
- Study completion
- Oct 31, 2028 (estimated)
- Target enrollment
- 15 participants (estimated)
- Last updated on registry
- Aug 26, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Shionogi
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Shionogi Clinical Trials Administrator Clinical Support Help Line 📞 1-800-849-9707 ✉ Shionogiclintrials-admin@shionogi.co.jp
Participating sites
Study locations have not been posted on ClinicalTrials.gov yet. This study is not yet recruiting, so sites may be added when recruitment begins. The central study contact above may be able to tell you about planned sites.
Terms used on this page · explanations by MedicalUpdates.ai
- primary purpose
- The main reason an interventional study is being done, for example treatment, prevention, diagnosis, supportive care or basic science.
- informed consent form
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- %FVC
- A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
- at screening
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- 6MWT
- A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- investigational
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- 5 half-lives
- The time it takes for the amount of a drug in the body to fall by half. 'Five half-lives' is often used as the point at which a previous drug has essentially left the body.
- exclusion criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- Key Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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